ClinVar Genomic variation as it relates to human health
NC_000016.9:g.(?_1822222)_(2550959_?)dup
Germline
Classification
(1)
Uncertain significance
criteria provided, single submitter
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
PKD1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
3346 | 3881 | |
TSC2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
10664 | 10858 | |
ABCA3 | - | - |
GRCh38 GRCh37 |
1555 | 1606 | |
BRICD5 | - | - | - |
GRCh38 GRCh37 |
21 | 75 |
CASKIN1 | - | - |
GRCh38 GRCh37 |
113 | 163 | |
CCNF | - | - |
GRCh38 GRCh37 |
105 | 170 | |
DNASE1L2 | - | - |
GRCh38 GRCh37 |
12 | 56 | |
E4F1 | - | - |
GRCh38 GRCh37 |
51 | 101 | |
ECI1 | - | - |
GRCh38 GRCh37 |
28 | 75 | |
EME2 | - | - |
GRCh38 GRCh37 |
5 | 142 |
There are 31 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jan 2, 2024 | RCV004582753.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jul 07, 2024